Dyslipidemias as rare diseases

Overview

Dyslipidemias are mostly considered to be diseases with mass incidence. However, there are also several dyslipidemias that occur within the framework of rare diseases. Most of them are genetically determined. In this review, we have focused on three selected diseases for which new therapy is available and significantly change prognosis of the patients. Homozygous familial hypercholesterolaemia is associated with extreme elevation of LDL cholesterol, leading to premature manifestation of atherosclerotic cardiovascular disease in the first decade of life.

Thanks to new hypolipidemic drugs such as evinacumab and lomitapide, patients today have a much better prognosis than in the past. Lipodystrophies are a heterogeneous group of diseases characterized by progressive loss of adipose tissue leading to metabolic abnormalities. Due to new causal metreleptine therapy, we can help patients with managing these metabolic complications significantly. Familial chylomicronemia is not associated with an increased risk of atherosclerotic cardiovascular disease, but it is accompanied by extremely high levels of triglycerides, leading to frequent attacks of acute pancreatitis, which can be potentially fatal. Therapy with volanesorsen leads to a reduction of hypertriglyceridemia, thereby reducing the risk of developing acute pancreatitis.

Although these diseases are rare, it is necessary to think about them and diagnose them early. Interdisciplinary cooperation is essential during search and treatment of these patients.

Keywords:

familial hypercholesterolaemia, homozygous form, mutation, variant, HICC registry, lomitapide, evinacumab, lipodystrophy, metreleptine, familial chylomicronemia, volanesorsen